Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs550659379
rs550659379
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2008 2008
dbSNP: rs562010289
rs562010289
2 0.925 0.120 1 183227583 missense variant G/A;C snv 1.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs6265
rs6265
264 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2009 2009
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2008 2008
dbSNP: rs6860
rs6860
1 1.000 0.080 16 89644712 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs752834812
rs752834812
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs772651364
rs772651364
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs79448530
rs79448530
1 1.000 0.080 11 4577726 non coding transcript exon variant C/G;T snv 4.0E-06; 3.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs841
rs841
7 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 0.010 1.000 1 2018 2018